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ISSN: 2161-038X

Reproductive System & Sexual Disorders: Current Research
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Review Article

The Genetics of Keratoconus: A Review

Joshua Wheeler1, Michael A. Hauser1,2, Natalie A. Afshari2, R. Rand Allingham2 and Yutao Liu1*

1Center for Human Genetics, Department of Medicine, Duke University Medical Center, Durham, NC, USA 27710

2Department of Ophthalmology, Duke University Medical Center, Durham, NC, USA 27710

*Corresponding Author:
Yutao Liu
905 S LaSalle Street, DUMC BOX 3445, Durham
NC, USA 27710
Tel: +1-919-684-7090
Fax: +1-919-684-0918
E-mail: [email protected]

Received date: March 27, 2012; Accepted date: June 01, 2012; Published date: June 03, 2012

Citation: Wheeler J, Hauser MA, Afshari NA, Allingham RR, Liu Y (2012) The Genetics of Keratoconus: A Review. Reproductive Sys Sexual Disord S6:001. doi:10.4172/2161-038X.S6-001

Copyright: © 2011 Wheeler J, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

Keratoconus is the most common ectatic disorder of the corneal. Genetic and environmental factors may contribute to its pathogenesis. The focus of this article is to summarize current research into the complex genetics of keratoconus. We discuss the evidence of genetic etiology including family-based linkage studies, twin studies, genetic mutations, and genome-wide association studies. The genes implicated potentially include VSX1, miR-184, DOCK9, SOD1, RAB3GAP1, and HGF. Besides the coding mutations, we also highlight the potential contribution of DNA copy number variants in the pathogenesis of keratoconus. Finally, we present future directions for genetic research in the understanding of the complex genetics of keratoconus and its clinical significance. As new functional, candidate genes for keratoconus are being discovered at a rapid pace, the molecular genetic mechanisms underlying keratoconus pathogenesis will advance our understanding of keratoconus and promote the development of a novel therapy.

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